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Disease genetics

Under pressure — genetics of hypertension

Nature Reviews Genetics volume 17, pages 658–659 (2016)Cite this article

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In the first study, Ehret et al. undertook meta-analyses of association summary statistics from 201,529 individuals of European descent who had been enrolled in 74 different studies and genotyped using genome-wide or targeted Cardio-MetaboChip arrays, which focus on genetic variants associated with cardiovascular and metabolic traits. The researchers identified 66 blood pressure-associated loci, including 17 new genomic sites. The variants were enriched for gene cis-regulatory elements, especially those active in vascular endothelial cells, which are broadly distributed across blood vessels, tissues and organs. The authors propose that functional variation in these cells might affect endothelial permeability or vascular smooth muscle cell contractility.

In the second paper, Liu et al. report a two-stage study in up to 327,288 individuals who were genotyped with the ExomeChip, which is designed to also identify rare variant associations. The study found 32 new blood pressure-associated loci (31 from single-variant tests, one from gene-based tests). Of the newly identified variants, 14 were located in regions that have been linked in previous genome-wide association studies with lipid levels, immunological diseases or metabolic phenotypes, which suggests that hypertension and cardiometabolic diseases share common aetiologies.

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References

  1. Ehret, G. B. et al. The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals. Nat. Genet. http://dx.doi.org/10.1038/ng.3667 (2016)

  2. Liu, C. et al. Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. Nat. Genet. http://dx.doi.org/10.1038/ng.3660 (2016)

  3. Surendran, P. et al. Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. Nat. Genet. http://dx.doi.org/10.1038/ng.3654 (2016)

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  1. Linda Koch
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Koch, L. Under pressure — genetics of hypertension. Nat Rev Genet 17, 658–659 (2016). https://doi.org/10.1038/nrg.2016.128

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